Canonical Allele Identifier: CA404258032

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776544T>A (hg19) ; chr19:g.12665730T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665730T>A , CM000681.2:g.12665730T>A	GRCh38
NC_000019.9:g.12776544T>A , CM000681.1:g.12776544T>A	GRCh37
NC_000019.8:g.12637544T>A	NCBI36
NG_008318.1:g.6048A>T
NG_015814.1:g.3927T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.235A>T MANE Select	ENSP00000395473.2:p.Lys79Ter
ENST00000221363.8:c.235A>T	ENSP00000221363.4:p.Lys79Ter
ENST00000456935.6:c.235A>T	ENSP00000395473.2:p.Lys79Ter
ENST00000466794.5:n.217A>T
ENST00000486847.2:c.160-205A>T	ENSP00000470174.1:n.160-205A>T
ENST00000596512.5:n.201-205A>T
ENST00000597961.1:c.226A>T	ENSP00000472710.1:p.Lys76Ter
ENST00000598876.1:c.262A>T	ENSP00000470533.1:p.Lys88Ter
ENST00000600281.1:n.276A>T
NM_000528.3:c.235A>T	NP_000519.2:p.Lys79Ter
NM_001173498.1:c.235A>T	NP_001166969.1:p.Lys79Ter
XM_005259913.1:c.235A>T	XP_005259970.1:p.Lys79Ter
XM_005259913.2:c.235A>T	XP_005259970.1:p.Lys79Ter
XM_024451518.1:c.-784A>T	XP_024307286.1:n.-784A>T
NM_000528.4:c.235A>T MANE Select	NP_000519.2:p.Lys79Ter
NM_001173498.2:c.235A>T	NP_001166969.1:p.Lys79Ter